esv33822
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,754
- Publication(s):de Smith et al. 2007
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 842 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 679 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 842 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv33822 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,779,413 | 34,825,166 |
| esv33822 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,742 | 317,495 |
| esv33822 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,781,035 | 34,826,788 |
| esv33822 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,742 | 317,495 |
| esv33822 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 34,603,601 | 34,649,354 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv100752 | copy number loss | 21656 | Oligo aCGH | Probe signal intensity | 288 |
| essv93379 | copy number loss | 22170 | Oligo aCGH | Probe signal intensity | 238 |
| essv93843 | copy number loss | 21634 | Oligo aCGH | Probe signal intensity | 176 |
| essv94371 | copy number loss | 21808 | Oligo aCGH | Probe signal intensity | 172 |
| essv95516 | copy number loss | 21847 | Oligo aCGH | Probe signal intensity | 152 |
| essv96970 | copy number loss | 21817 | Oligo aCGH | Probe signal intensity | 201 |
| essv97148 | copy number loss | 22075 | Oligo aCGH | Probe signal intensity | 208 |
| essv98460 | copy number loss | 22352 | Oligo aCGH | Probe signal intensity | 185 |
| essv99936 | copy number loss | 22086 | Oligo aCGH | Probe signal intensity | 362 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv100752 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv93379 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv93843 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv94371 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv95516 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv96970 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv97148 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv98460 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv99936 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv100752 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv93379 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv93843 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv94371 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv95516 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv96970 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv97148 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv98460 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv99936 | Remapped | Perfect | NC_000004.12:g.(34 777964_34779413)_( 34825166_34828309) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,964 | 34,779,413 | 34,825,166 | 34,828,309 |
| essv100752 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv93379 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv93843 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv94371 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv95516 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv96970 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv97148 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv98460 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv99936 | Remapped | Perfect | NW_003315915.1:g.( 270293_271742)_(31 7495_320638)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,293 | 271,742 | 317,495 | 320,638 |
| essv100752 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv93379 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv93843 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv94371 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv95516 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv96970 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv97148 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv98460 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv99936 | Remapped | Perfect | NC_000004.11:g.(34 779586_34781035)_( 34826788_34829931) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,586 | 34,781,035 | 34,826,788 | 34,829,931 |
| essv100752 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv93379 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv93843 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv94371 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv95516 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv96970 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv97148 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv98460 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 | ||
| essv99936 | Submitted genomic | NC_000004.9:g.(346 02152_34603601)_(3 4649354_34652497)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,602,152 | 34,603,601 | 34,649,354 | 34,652,497 |